ArticleEndocrinology, diabetes & metabolism2022
MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance.
Article in Endocrinology, diabetes & metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 18 citations in OpenAlex.
- [Genetic, endocrine, drug-induced and pancreatogenic forms of diabetes and exocrine pancreatic insufficiency (Update 2026)].Wiener klinische Wochenschrift · 2026Review
- Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes.Frontiers in endocrinology · 2026Article
- Comprehensive study of associated factors with Type 2 Diabetes in Mexico: protocol.Revista medica del Instituto Mexicano del Seguro Social · 2025Observational
- The Maturity-Onset Diabetes of the Young (MODY) Calculator Overestimates MODY Probability in Hispanic Youth.The Journal of clinical endocrinology and metabolism · 2025Article
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Distinct Roles of Common Genetic Variants and Their Contributions to Diabetes: MODY and Uncontrolled T2DM.Biomolecules · 2025Review
- Atypical Diabetes: What Have We Learned and What Does the Future Hold?Diabetes care · 2024Review
- Utility of Fasting C-Peptide for the Diagnostic Differentiation of Patients with Type 1, Type 2 Diabetes, MODY, and LADA.Life (Basel, Switzerland) · 2024Article
- MODY Probability Calculator Is Suitable for MODY Screening in China: A Population-based Study.Journal of the Endocrine Society · 2024Article
- Diabetes and artificial intelligence beyond the closed loop: a review of the landscape, promise and challenges.Diabetologia · 2024Review
- Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.Acta diabetologica · 2024Article
- Diagnostic pitfalls in a young adult with new diabetes.Endocrinology, diabetes & metabolism case reports · 2023Article
- Identification of appropriate biochemical parameters and cut points to detect Maturity Onset Diabetes of Young (MODY) in Asian Indians in a clinic setting.Scientific reports · 2023Article
- MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance.Endocrinology, diabetes & metabolism · 2022Article
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11 authors at 4 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
introductionMODY probability calculator (MPC) represents an easy-to-use tool developed by Exeter University to help clinicians prioritize which individuals should be oriented to genetic testing. We aimed to assess the utility of MPC in a Portuguese cohort with early-onset monogenic diabetes.
methodsThis single-centre retrospective study enrolled 132 participants submitted to genetic testing between 2015 and 2020. Automatic sequencing and, in case of initial negative results, generation sequencing were performed. MODY probability was calculated using the probability calculator available online. Positive and negative predictive values (PPV and NPV, respectively), accuracy, sensitivity and specificity of the calculator were determined for this cohort.
resultsSeventy-three individuals were included according to inclusion criteria: 20 glucokinase (GCK-MODY); 16 hepatocyte nuclear factor 1A (HNF1A-MODY); 2 hepatocyte nuclear factor 4A (HNF4A-MODY) and 35 DM individuals with no monogenic mutations found. The median probability score of MODY was significantly higher in monogenic diabetes-positive subgroup (75.5% vs. 24.2%, p < .001). The discriminative accuracy of the calculator, as expressed by area under the curve, was 75% (95% CI: 64%-85%). In our cohort, the best cut-off value for the MODY calculator was found to be 36%, with a PPV of 74.4%, NPV of 73.5% and corresponding sensitivity and specificity of 76.2% and 71.4%, respectively.
conclusionsIn a highly pre-selected group of probands qualified for genetic testing, the Exeter MODY probability calculator provided a useful tool in individuals' selection for genetic testing, with good discrimination ability under an optimal probability cut-off of 36%. Further geographical and population adjustments are warranted for general use.
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